Canonical Allele Identifier: CA919242907

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566258811

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394706_32394710del , CM000675.2:g.32394706_32394710del	GRCh38
NC_000013.10:g.32968843_32968847del , CM000675.1:g.32968843_32968847del	GRCh37
NC_000013.9:g.31866843_31866847del	NCBI36
NG_012772.3:g.84227_84231del , LRG_293:g.84227_84231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9274_9278del	ENSP00000434898.2:p.Tyr3092ValfsTer17
ENST00000528762.2:c.*641_*645del	ENSP00000433168.2:n.*641_*645del
ENST00000530893.7:c.8905_8909del	ENSP00000499438.2:p.Tyr2969ValfsTer17
ENST00000665585.2:c.*836_*840del	ENSP00000499570.2:n.*836_*840del
ENST00000666593.2:c.*119_*123del	ENSP00000499256.2:n.*119_*123del
ENST00000700202.2:c.9223_9227del	ENSP00000514856.2:p.Tyr3075ValfsTer17
ENST00000700202.1:c.1690_1694del	ENSP00000514856.1:p.Tyr564ValfsTer17
ENST00000700203.1:n.1401_1405del
ENST00000380152.8:c.9274_9278del MANE Select	ENSP00000369497.3:p.Tyr3092ValfsTer17
ENST00000544455.6:c.9274_9278del	ENSP00000439902.1:p.Tyr3092ValfsTer17
ENST00000614259.2:c.9282_9286del	ENSP00000506251.1:n.9282_9286del
ENST00000665585.1:c.2152_2156del
ENST00000666593.1:c.296_300del	ENSP00000499256.1:n.296_300del
ENST00000680887.1:c.9274_9278del	ENSP00000505508.1:p.Tyr3092ValfsTer17
ENST00000380152.7:c.9274_9278del	ENSP00000369497.3:p.Tyr3092ValfsTer17
ENST00000470094.1:c.231_235del
ENST00000544455.5:c.9274_9278del	ENSP00000439902.1:p.Tyr3092ValfsTer17
NM_000059.3:c.9274_9278del , LRG_293t1:c.9274_9278del	NP_000050.2:p.Tyr3092ValfsTer17
XM_011535203.1:c.9274_9278del	XP_011533505.1:p.Tyr3092ValfsTer17
XM_011535204.1:c.9178_9182del	XP_011533506.1:p.Tyr3060ValfsTer17
NM_000059.4:c.9274_9278del MANE Select	NP_000050.3:p.Tyr3092ValfsTer17